Article
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
Journal of human genetics - 1 Jan 2005
Lu Yao Bang, Kobayashi Keiko, Ushikai Miharu, Tabata Ayako, Iijima Mikio, Li Meng Xian, Lei Lei, Kawabe Kotaro, Taura Satoru, Yang Yanling, Liu Tze-Tze, Chiang Szu-Hui, Hsiao Kwang-Jen, Lau Yu-Lung, Tsui Lap-Chee, Lee Dong Hwan, Saheki Takeyori
Abstract excerpt
Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and...
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